← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-1496059-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1496059&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 1496059,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000329066.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "NM_001206744.2",
"protein_id": "NP_001193673.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 933,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "ENST00000329066.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "ENST00000329066.9",
"protein_id": "ENSP00000329869.4",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 933,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "NM_001206744.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "ENST00000345913.8",
"protein_id": "ENSP00000318820.7",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 933,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "ENST00000382201.7",
"protein_id": "ENSP00000371636.3",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 876,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000382198.5",
"protein_id": "ENSP00000371633.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 760,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "n.677+2020C>T",
"hgvs_p": null,
"transcript": "ENST00000497517.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "NM_000547.6",
"protein_id": "NP_000538.3",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 933,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "NM_175721.3",
"protein_id": "NP_783652.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 889,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "ENST00000346956.7",
"protein_id": "ENSP00000263886.6",
"transcript_support_level": 5,
"aa_start": 693,
"aa_end": null,
"aa_length": 889,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "NM_001206745.2",
"protein_id": "NP_001193674.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 876,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "NM_175719.4",
"protein_id": "NP_783650.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 876,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622Trp",
"transcript": "ENST00000422464.5",
"protein_id": "ENSP00000405788.1",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 864,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "NM_175722.3",
"protein_id": "NP_783653.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 760,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "ENST00000446278.5",
"protein_id": "ENSP00000400033.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 403,
"cds_start": 499,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "ENST00000469607.3",
"protein_id": "ENSP00000419461.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 363,
"cds_start": 499,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "XM_024453085.2",
"protein_id": "XP_024308853.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 947,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "XM_011510380.4",
"protein_id": "XP_011508682.2",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 941,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_024453087.2",
"protein_id": "XP_024308855.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_024453088.2",
"protein_id": "XP_024308856.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_024453089.2",
"protein_id": "XP_024308857.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_047445652.1",
"protein_id": "XP_047301608.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_047445653.1",
"protein_id": "XP_047301609.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_047445654.1",
"protein_id": "XP_047301610.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_047445655.1",
"protein_id": "XP_047301611.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp",
"transcript": "XM_047445656.1",
"protein_id": "XP_047301612.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 935,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3579,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "XM_024453090.2",
"protein_id": "XP_024308858.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 901,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "XM_047445657.1",
"protein_id": "XP_047301613.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 897,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "XM_024453091.2",
"protein_id": "XP_024308859.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 888,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "XM_024453092.2",
"protein_id": "XP_024308860.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 844,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532Trp",
"transcript": "XM_024453093.2",
"protein_id": "XP_024308861.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 772,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "n.424+2020C>T",
"hgvs_p": null,
"transcript": "ENST00000462973.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231482",
"gene_hgnc_id": null,
"hgvs_c": "n.548-77598G>A",
"hgvs_p": null,
"transcript": "ENST00000650512.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228613",
"gene_hgnc_id": 58132,
"hgvs_c": "n.521-46940G>A",
"hgvs_p": null,
"transcript": "ENST00000816433.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228613",
"gene_hgnc_id": 58132,
"hgvs_c": "n.655-9868G>A",
"hgvs_p": null,
"transcript": "ENST00000816434.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LALTOP",
"gene_hgnc_id": 58132,
"hgvs_c": "n.3601+1722G>A",
"hgvs_p": null,
"transcript": "NR_198948.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LALTOP",
"gene_hgnc_id": 58132,
"hgvs_c": "n.4508-9868G>A",
"hgvs_p": null,
"transcript": "NR_198949.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"dbsnp": "rs121908087",
"frequency_reference_population": 0.0000111533145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116307,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9844379425048828,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.807,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.7,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000329066.9",
"gene_symbol": "TPO",
"hgnc_id": 12015,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693Trp"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_198948.1",
"gene_symbol": "LALTOP",
"hgnc_id": 58132,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3601+1722G>A",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000650512.1",
"gene_symbol": "ENSG00000231482",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.548-77598G>A",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000816433.1",
"gene_symbol": "ENSG00000228613",
"hgnc_id": 58132,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.521-46940G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Deficiency of iodide peroxidase,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Deficiency of iodide peroxidase|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}